Variant report

Variant	rs72681283
Chromosome Location	chr14:77837632-77837633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77819648..77821971-chr14:77835569..77838449,2	K562	blood:
2	chr14:77832757..77835144-chr14:77836062..77838189,2	K562	blood:
3	chr14:77834994..77837691-chr14:77840044..77842472,2	K562	blood:
4	chr14:77834994..77837715-chr14:77840972..77843467,2	K562	blood:
5	chr14:77837551..77839904-chr14:77849824..77852525,2	MCF-7	breast:
6	chr14:77785710..77794377-chr14:77836948..77846491,26	MCF-7	breast:
7	chr14:77832875..77836043-chr14:77836828..77840686,4	MCF-7	breast:
8	chr14:77800069..77802729-chr14:77837038..77840150,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000100580	Chromatin interaction
ENSG00000100583	Chromatin interaction
ENSG00000009830	Chromatin interaction
ENSG00000100577	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10450933	0.91[ASN][1000 genomes]
rs17105674	0.82[EUR][1000 genomes]
rs17105759	0.91[ASN][1000 genomes]
rs17751122	0.91[ASN][1000 genomes]
rs2287397	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2293802	0.91[ASN][1000 genomes]
rs2302831	0.82[EUR][1000 genomes]
rs3742739	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55886156	0.82[EUR][1000 genomes]
rs55891221	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56018212	0.82[EUR][1000 genomes]
rs56091500	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403921	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681225	0.82[EUR][1000 genomes]
rs72681227	0.82[EUR][1000 genomes]
rs72681229	0.82[EUR][1000 genomes]
rs72681235	0.82[EUR][1000 genomes]
rs72681243	0.89[EUR][1000 genomes]
rs72681261	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681262	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681263	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72681264	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681265	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681270	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681275	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681276	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681278	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681279	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681280	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681281	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72681284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73311381	1.00[ASN][1000 genomes]
rs8177546	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177560	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177565	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177567	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177568	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8177571	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv902107	chr14:77790416-77871777	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77806400-77838600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:77809600-77842000	Weak transcription	HUVEC	blood vessel
3	chr14:77810000-77838800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:77812800-77842000	Weak transcription	Pancreas	Pancrea
5	chr14:77813800-77842400	Weak transcription	Aorta	Aorta
6	chr14:77817000-77842000	Weak transcription	Colon Smooth Muscle	Colon
7	chr14:77817200-77840000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:77817200-77841600	Weak transcription	Brain Germinal Matrix	brain
9	chr14:77817200-77842000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:77817400-77841200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr14:77818000-77842000	Weak transcription	Fetal Stomach	stomach
12	chr14:77822400-77841600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:77826200-77837800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:77829600-77838600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:77829600-77842000	Weak transcription	Spleen	Spleen
16	chr14:77829800-77842400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:77830400-77838400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:77831000-77841400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:77832000-77842000	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:77832600-77841400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr14:77835400-77840400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:77835600-77838400	Enhancers	Primary B cells from cord blood	blood
23	chr14:77835600-77839200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr14:77835600-77840800	Weak transcription	Brain Anterior Caudate	brain
25	chr14:77836000-77840600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:77836000-77842200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:77836000-77842400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:77836200-77837800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:77836200-77838400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:77836200-77838600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:77836200-77838600	Weak transcription	Liver	Liver
32	chr14:77836200-77839000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr14:77836200-77839600	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:77836200-77841200	Weak transcription	Primary T cells from cord blood	blood
35	chr14:77836200-77841600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:77836200-77841600	Weak transcription	Thymus	Thymus
37	chr14:77836200-77842000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr14:77836200-77842000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:77836200-77842000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:77836200-77842000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr14:77836400-77840600	Weak transcription	Dnd41	blood
42	chr14:77836400-77842000	Weak transcription	Fetal Thymus	thymus
43	chr14:77836800-77837800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:77837200-77838800	Enhancers	Primary B cells from peripheral blood	blood
45	chr14:77837400-77839400	Enhancers	Fetal Kidney	kidney
46	chr14:77837400-77841600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:77837400-77842000	Enhancers	HepG2	liver
48	chr14:77837600-77837800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr14:77837600-77837800	Enhancers	Fetal Intestine Small	intestine
50	chr14:77837600-77837800	Enhancers	Pancreatic Islets	Pancreatic Islet

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